chr16-30188392-C-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_007074.4(CORO1A):c.1097C>A(p.Pro366His) variant causes a missense change. The variant allele was found at a frequency of 0.00295 in 1,613,852 control chromosomes in the GnomAD database, including 14 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_007074.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CORO1A | NM_007074.4 | c.1097C>A | p.Pro366His | missense_variant | Exon 10 of 11 | ENST00000219150.10 | NP_009005.1 | |
CORO1A | NM_001193333.3 | c.1097C>A | p.Pro366His | missense_variant | Exon 11 of 12 | NP_001180262.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00254 AC: 386AN: 152184Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00301 AC: 752AN: 250000Hom.: 3 AF XY: 0.00301 AC XY: 407AN XY: 135270
GnomAD4 exome AF: 0.00300 AC: 4381AN: 1461550Hom.: 14 Cov.: 36 AF XY: 0.00293 AC XY: 2133AN XY: 727086
GnomAD4 genome AF: 0.00253 AC: 386AN: 152302Hom.: 0 Cov.: 31 AF XY: 0.00227 AC XY: 169AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:3
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CORO1A: BS2 -
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Severe combined immunodeficiency due to CORO1A deficiency Benign:2
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CORO1A-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at